Abstract
We describe 8 patients affected with Costello syndrome including an affected sib pair and review the literature on 29 previously reported cases. We emphasize an association with advanced parental age, which is consistent with autosomal dominant inheritance with germline mosaicism. The pathogenesis appears to involve metabolic dysfunction, with growth disturbance, storage disorder appearance, acanthosis nigricans, hypertrophic cardiomyopathy, and occasional abnormalities of glucose metabolism. Although the cause is currently unknown, Costello syndrome is interesting because of a potential genetic-metabolic etiology.
MeSH terms
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Acanthosis Nigricans / pathology
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Acanthosis Nigricans / physiopathology
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Adolescent
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Adult
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Age Factors
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Carbohydrate Metabolism, Inborn Errors / pathology
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Carbohydrate Metabolism, Inborn Errors / physiopathology
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Cardiomyopathy, Hypertrophic / pathology
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Cardiomyopathy, Hypertrophic / physiopathology
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Child
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Child, Preschool
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Diagnosis, Differential
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Dwarfism / diagnosis
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Dwarfism / etiology
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Dwarfism / genetics
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Dwarfism / pathology*
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Dwarfism / physiopathology
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Facies*
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Female
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Genes, Dominant / genetics
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Germ-Line Mutation / genetics
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Glucose / metabolism
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Humans
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Intellectual Disability / diagnosis
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Intellectual Disability / etiology
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Intellectual Disability / genetics
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Intellectual Disability / pathology*
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Intellectual Disability / physiopathology
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Male
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Metabolic Diseases / pathology
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Metabolic Diseases / physiopathology
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Mosaicism / genetics
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Nose Neoplasms / diagnosis
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Nose Neoplasms / etiology
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Nose Neoplasms / genetics
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Nose Neoplasms / pathology
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Nose Neoplasms / physiopathology
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Papilloma / diagnosis
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Papilloma / etiology
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Papilloma / genetics
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Papilloma / pathology
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Papilloma / physiopathology
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Parents
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Phenotype
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Syndrome